Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.
Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.
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DOI：
10.1111/ene.13125
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发表时间：
2017-01
影响因子：
5.1
通讯作者：
Ikeuchi T
中科院分区：
文献类型：
--
作者：
Konno T;Yoshida K;Mizuno T;Kawarai T;Tada M;Nozaki H;Ikeda SI;Nishizawa M;Onodera O;Wszolek ZK;Ikeuchi T
集落刺激因子1受体（CSF1R）相关的成人发病的伴有轴突球样变和色素性胶质细胞的脑白质病（ALSP）的临床特征仅得到了部分阐明。
收集了在我们机构就诊或在其他地方报道的CSF1R突变携带者的临床数据，并使用特定的调查表进行分析以规范数据。
总共确定了来自90个CSF1R突变家庭的122例病例。发病平均年龄为43岁（范围18 - 78岁），死亡平均年龄为53岁（范围23 - 84岁），平均病程为6.8年（范围1 - 29年）。女性发病年龄明显比男性年轻（40岁对47岁，P = 0.0006，95%置信区间3.158 - 11.177）。外显率具有年龄依赖性，且在性别之间存在显著差异（P = 0.0013）。运动功能障碍是20多岁发病的女性最常见的初始症状。胼胝体变薄、锥体束信号异常、弥散受限病变和白质钙化是ALSP的特征性影像学表现。在我们的病例系列中，钙化的报道频率比文献中更高（54%对3%）。79%的突变位于CSF1R的酪氨酸激酶结构域的远端部分（102例）。没有明显的表型 - 基因型相关性。
ALSP的特征得到了阐明。由CSF1R突变引起的ALSP的表型受性别影响。
The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) have been only partially elucidated. Clinical data from CSF1R mutation carriers who had been seen at our institutions or reported elsewhere were collected and analysed using a specific investigation sheet to standardize the data. In all, 122 cases from 90 families with CSF1R mutations were identified. The mean age of onset was 43 years (range 18–78 years), the mean age at death was 53 years (range 23–84 years) and the mean disease duration was 6.8 years (range 1–29 years). Women had a significantly younger age of onset than men (40 vs. 47 years, P = 0.0006, 95% confidence interval 3.158–11.177). There was an age‐dependent penetrance that was significantly different between the sexes (P = 0.0013). Motor dysfunctions were the most frequent initial symptom in women whose diseases began in their 20s. Thinning of the corpus callosum, abnormal signalling in pyramidal tracts, diffusion‐restricted lesions and calcifications in the white matter were characteristic imaging findings of ALSP. The calcifications were more frequently reported in our case series than in the literature (54% vs. 3%). Seventy‐nine per cent of the mutations were located in the distal part of the tyrosine kinase domain of CSF1R (102 cases). There were no apparent phenotype−genotype correlations. The characteristics of ALSP were clarified. The phenotype of ALSP caused by CSF1R mutations is affected by sex.
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影响因子：
6
作者：
Bender, Benjamin;Klose, Uwe;Karle, Kathrin N.
通讯作者：
Karle, Kathrin N.
影响因子：
4.4
作者：
Kim, Eun-Joo;Shin, Jin-Hong;Huh, Gi Yeong
通讯作者：
Huh, Gi Yeong
影响因子：
12.7
作者：
Baba, Y;Ghetti, B;Wszolek, ZK
通讯作者：
Wszolek, ZK
影响因子：
1.2
作者：
Kinoshita, Michiaki;Kondo, Yasufumi;Ikeda, Shu-ichi
通讯作者：
Ikeda, Shu-ichi
影响因子：
1.2
作者：
Kondo, Yasufumi;Kinoshita, Michiaki;Ikeda, Shu-ichi
通讯作者：
Ikeda, Shu-ichi